A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6338712



Internal ID20996265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:182272801..182273500hg38UCSC Ensembl
chr2:183137528..183138227hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg38700
hg19700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18081024
Samples
Known GenesPDE1A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6338712
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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